Sleep architecture and <scp>qEEG</scp> patterns in <scp>PME</scp> type 1 diagnosis

Unverricht-Lundborg disease (ULD) is a rare, progressive myoclonic epilepsy for which no disease-modifying treatments currently exist. Disease biomarkers are critically needed to guide prognosis and monitor therapeutic response. We present a case highlighting progressive deterioration of sleep architecture as a potential marker of disease progression in ULD. Quantitative EEG (qEEG) analysis over serial recordings demonstrated a gradual decline in hallmark features of non-rapid eye movement sleep, including sleep spindles and K-complexes. Over time, these sleep-specific graphoelements became nearly absent, rendering sleep EEG patterns indistinguishable from wakefulness. This loss of sleep architecture occurred in parallel with worsening motor and cognitive function. These findings suggest that sleep EEG abnormalities may reflect underlying cortical dysfunction and could serve as an early, objective indicator of neurodegeneration in ULD. Further prospective studies are warranted to validate qEEG as a noninvasive biomarker for disease monitoring and to explore its potential role in clinical trials.

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Publication Details

Journal
Epileptic Disorders
Published
2025-08-22
DOI
https://doi.org/10.1002/epd2.70079
Primary Topic
Glycogen Storage Diseases and Myoclonus
Type
article
Field-Weighted Citation Impact
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article

Sleep architecture and qEEG patterns in PME type 1 diagnosis

Douglas R. Nordli, Emily Doll, Mohamed Taha, Berge A. Minassian et al.
Epileptic Disorders
Glycogen Storage Diseases and Myoclonus
article

Sleep architecture and qEEG patterns in PME type 1 diagnosis

Douglas R. Nordli, Emily Doll, Mohamed Taha, Berge A. Minassian, Emma Pophal
article en

Abstract

Unverricht-Lundborg disease (ULD) is a rare, progressive myoclonic epilepsy for which no disease-modifying treatments currently exist. Disease biomarkers are critically needed to guide prognosis and monitor therapeutic response. We present a case highlighting progressive deterioration of sleep architecture as a potential marker of disease progression in ULD. Quantitative EEG (qEEG) analysis over serial recordings demonstrated a gradual decline in hallmark features of non-rapid eye movement sleep, including sleep spindles and K-complexes. Over time, these sleep-specific graphoelements became nearly absent, rendering sleep EEG patterns indistinguishable from wakefulness. This loss of sleep architecture occurred in parallel with worsening motor and cognitive function. These findings suggest that sleep EEG abnormalities may reflect underlying cortical dysfunction and could serve as an early, objective indicator of neurodegeneration in ULD. Further prospective studies are warranted to validate qEEG as a noninvasive biomarker for disease monitoring and to explore its potential role in clinical trials.

Epileptic DisordersVol. 27(5)
Duke University (US), University of Chicago (US), Southwestern Medical Center (US), Southwestern Medical Center (US), The University of Texas Southwestern Medical Center (US)
Openalex Percentile: Top 67%
Glycogen Storage Diseases and Myoclonus
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Sleep architecture and <scp>qEEG</scp> patterns in <scp>PME</scp> type 1 diagnosis — Douglas R. Nordli, Emily Doll, et al. · Epileptic Disorders (2025) | TGRS Research Map | TGRS